neurodevelopmental disorder with language delay and seizures
MONDO:0859256Mondo
Findings
No curated finding names neurodevelopmental disorder with language delay and seizures yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Attention deficit hyperactivity disorderHPOHP:0007018
- 2 of 2 reported patients
- Autistic behaviorHPOHP:0000729
- 2 of 2 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 5 of 5 reported patients
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- SeizureHPOHP:0001250
- 5 of 5 reported patients
- HypothyroidismHPOHP:0000821
- 3 of 4 reported patients
- CryptorchidismHPOHP:0000028
- 2 of 4 reported patients
- CNS hypomyelinationHPOHP:0003429
- 1 of 3 reported patients
- Diffuse cerebral atrophyHPOHP:0002506
- 1 of 3 reported patients
- Hypothalamic hamartomaHPOHP:0002444
- 1 of 3 reported patients
- Thin corpus callosumHPOHP:0033725
- 1 of 3 reported patients
Show the remaining 5
- Axial hypotoniaHPOHP:0008936
- 1 of 4 reported patients
- HypomagnesemiaHPOHP:0002917
- 1 of 4 reported patients
- Obsessive-compulsive traitHPOHP:0008770
- 1 of 4 reported patients
- Growth delayHPOHP:0001510
- 1 of 5 reported patients
- Ventricular septal defectHPOHP:0001629
- 1 of 5 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TIAM1HGNC:11805
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2022